The lymphedema-lymphangiectasia-intellectual disability (Hennekam) syndrome (HS) is characterised by a widespread congenital lymph vessel dysplasia manifesting as congenital lymphedema of the limbs and intestinal lymphangiectasia, accompanied by unusual facial morphology, variable intellectual disabilities and infrequently malformations. The syndrome is heterogeneous as mutations in the gene CCBE1 have been found responsible for the syndrome in only a subset of patients. We investigated whether it would be possible to predict the presence of a CCBE1 mutation based on phenotype by collecting clinical data of patients diagnosed with HS, with or without a CCBE1 mutation. We report here the results of 13 CCBE1 positive patients, 16 CCBE1 negative patients, who were clinically found to have classical HS, and 8 patients in whom the diagnosis was considered possible, but not certain, and in whom no CCBE1 mutation was identified. We found no statistically significant phenotypic differences between the 2 groups with the clinical HS phenotype, although the degree of lymphatic dysplasia tended to be more pronounced in the mutation positive group. We also screened 158 patients with less widespread and less pronounced forms of lymphatic dysplasia for CCBE1 mutations, and no mutation was detected in this group. Our results suggest that (1) CCBE1 mutations are present only in patients with a likely clinical diagnosis of HS, and not in patients with less marked forms of lymphatic dysplasia, and (2) that there are no major phenotypic differences between HS patients with or without CCBE1 mutations.

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Patients with allergic tattoo reactions are burdened with itch and have a reduced quality of life. Conservative treatment is often insufficient and little is known about treatment options to remove the responsible allergen. We aimed to address the effectiveness and safety of ablative laser therapy including measurement of patient’s satisfaction, in patients with allergic reactions to tattoos. A retrospective study was conducted including patients with allergic tattoo reactions who were treated with a 10,600 nm ablative CO2 laser, either by full-surface ablation or fractional ablation. Clinical information originated from medical files and a 25-item questionnaire. Sixteen tattoo allergy patients were treated with a CO2 laser between January 2010 and January 2018. Fourteen patients completed the questionnaire. Ten patients were satisfied with laser treatment. On a visual analogue scale, pruritus and burning improved with a median of 5.5 and 4 points in the full surface ablation group and 3 points on both parameters in the fractional ablation group. Despite the relatively small group of patients, our results suggest that CO2 laser ablation improves itching, burning and impact on daily life in tattoo allergy.